Linked Data
dbSNP Id:
rs185989661
ExAC:
17:59667960 C / T
gnomAD v2:
17-59667960-C-T
gnomAD v3:
17-61590599-C-T
gnomAD v4:
17-61590599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590599C>T , CM000679.2:g.61590599C>T | GRCh38 |
| NC_000017.10:g.59667960C>T , CM000679.1:g.59667960C>T | GRCh37 |
| NC_000017.9:g.57022742C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.582G>A MANE Select | ENSP00000427802.1:p.Lys194= | |
| ENST00000521764.2:c.582G>A | ENSP00000427802.1:p.Lys194= | |
| NM_199290.3:c.582G>A | NP_954984.1:p.Lys194= | |
| NM_199290.4:c.582G>A MANE Select | NP_954984.1:p.Lys194= |